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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSC2

Variant:p.P1675_Y1678insFs

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TSC2

NM_000548.5:p.P1675_Y1678insFs

hg38:chr16:2087897 C>CGCTGGACT

Associated Papers

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Chuan Z et al.

Frontiers in Genetics, 2022

35571021 (PubMed )

Supplement: Table1.XLSX › Table_S1

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."